Article
Mutations in Gng3lg and AGPAT2 in Berardinelli-Seip congenital lipodystrophy and Brunzell syndrome: phenotype variability suggests important modifier effects.
The Journal of clinical endocrinology and metabolism - 1 Jun 2004
Fu Mao, Kazlauskaite Rasa, Baracho Maria de Fátima Paiva, Santos Maria Goretti Do Nascimento, Brandão-Neto José, Villares Sandra, Celi Francesco S, Wajchenberg Bernardo L, Shuldiner Alan R
Abstract excerpt
Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder caused by mutations in AGPAT2 and Gng3lg. We screened for mutations in AGPAT2 and Gng3lg in 26 families with CGL and one family with Brunzell syndrome. We found mutations in either AGPAT2 or Gng3lg in all but four probands, including three novel mutations in AGPAT2, A712T (Lys215X), IVS3-1G-->C, and C636A (Phe189X). In three...
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